A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719447



Internal ID10303083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2792759..2792998hg38UCSC Ensembl
Outerchr2:2796531..2796770hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832815, essv6871912, essv6729878, essv6886173
SamplesSSM047, SSM096, SSM082, SSM091
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2719447
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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